Opelika residents Sara and Michael Heatherly were told by doctors in January 2013 that their then-4-month-old son, Porter, would only have two to three years to live. But Porter continues to fight every day as he gets closer to celebrating his fourth birthday on Wednesday.
Porter was born with GM1 gangliosidosis, an inherited neurodegenerative disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord, according to the U.S. National Library of Medicine.
Sara Heatherly said she first noticed something different about her son when he was 3 months old.
“I noticed his eyes bouncing back and forth and not tracking objects as they should,” she said. “I thought he was having trouble seeing.”
She and her husband took Porter to their pediatrician to ask about the twitch in his eye, and were told that he was fine. Their pediatrician later referred them to a pediatric ophthalmologist in Birmingham.
“When we went to the ophthalmologist, he noticed cherry red spots,” Sara Heatherly said.
Cherry red spots are a sign of lipid storage disease, so the ophthalmologist referred them to a geneticist.
The geneticist told the Heatherlys cherry red spots are indicators of 13 or 14 different genetic disorders, and she would test for a few at a time.
Diagnosis of GM1
The Heatherlys knew something was wrong with their son because there is a generally a long wait period to see a geneticist. A few days after their appointment, a counselor called the family and said Porter had been diagnosed with GM1 gangliosidosis.
“Without cherry red spots, it’s hard to diagnose,” she said.
One in 200,000-300,000 people are affected by the disease, and in 2013, Porter’s case was the only known GM1 diagnosis in the state, she said.
He has the infantile form of the disease, which is the most aggressive; most children with GM1 are deaf and blind by their first birthday.
Porter peaked at about 9 months, his mother said.
“It becomes a regression.”
At 9 months, Porter began to lose muscle tone and vision, Sara Heatherly said. She said Porter is on several medications and uses equipment such as a g-tube, a $500 specialized bath seat and a $2,500 stroller to help him from day to day.
Sara Heatherly said she is at home with Porter two days out of the week, and they have a nurse during the day.
A typical day involves getting Porter up from bed, giving him his medicine and helping him with his catheters. There’s a similar routine at bedtime.
Michael Heatherly said he laughs when his son sticks his tongue out and closes his eyes when he is aggravated.
The couple also enjoy seeing their son smile, even if it’s due to one of his seizures.
Sara Heatherly said Porter’s health has been a rollercoaster with ups and downs, but lately, she and her husband have observed a steep decline.
“We know what the outcome is going to be,” she said. “We want to make the most of what we’ve been given.”
At 5 months, Michael Heatherly bought a birthday card for his son.
After that first birthday card, Heatherly said he and and his wife wanted to celebrate their son’s birthday more than just once a year.
“Having two birthdays is not a whole lot,” he said.
Thus, the Heatherlys celebrate Porter’s birthday every month, not knowing how many they will get to spend with their son.
On Oct. 1, the community is invited to a fundraising event in honor of Porter’s fourth birthday, benefiting the Cure GM1 Foundation.
The gala, which is set for 5 to 8 p.m. at the Auburn University Club, will feature live and silent auctions as well as raffles.
Tickets are $50 for entry and food and $25 for entry alone. Group packages also are available. Sponsorships are available for purchase.
There also is a donation option on the ticket website for those who can’t attend the event.
Sara said last year’s gala welcomed more than 200 people, and $35,000 was raised for the foundation.
“This has been our shining light,” she said. “We want to continue this every year.”
The Heatherlys have worked for more than two years to help promote GM1 research at the Scott-Ritchey Research Center in Auburn University’s School of Veterinary Medicine. There, Doug Martin DVM has led a team in creating gene therapy treatments for GM1 in cats. The team has partnered with a French biotech company called Lysogene to advance the inter-cranial approach of therapy, directly injecting the brain, to clinical trials.
Martin’s team also has been working on a less-invasive intravenous treatment for GM1, which has already seen success in cats. The majority of the funds raised by the California-based Cure GM1 Foundation will go toward clinical trials of the IV therapy.
For well-known, “big” diseases like cancer, Martin said, treatments must go through three rounds of clinical trials to be approved by the U.S. Food and Drug Administration. Treatments for rarer diseases have two rounds of trials.
Sara Heatherly said she hopes to get gene therapy to clinical trials for children in the near future, with the goal of having clinical trials available at the end of 2017 or the beginning of 2018.
Porter’s life and legacy
Michael Heatherly talked about how he and his wife feel about their son being able to be here for another fundraiser.
“We would never have expected for him to be with us,” Michael Heatherly said. “He has fought. Through him, we’re going to raise money and awareness.”
The couple talked about how their son has changed their lives for the better.
“He’s made me a stronger person,” Sara Heatherly said.
“He changes your perspective on life,” Michael Heatherly said. “You look at what’s really important. It changed us for the better.”
The Heatherlys advise parents who have children going through a similar disease to reach out to others.
“We rely on our faith a lot,” Sara Heatherly said.
“Cherish the times you get to spend with your family,” Michael Heatherly said. “Your child is here for a purpose. They can make a big impact on people around them.”
Anyone who would like to donate to the fundraiser can do so at www.CureGM1Fundraiser.Eventbrite.com.